GM23421 female affected LMNA sample

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Result Filters

Organism: Homo sapiens (human)
cellular organisms; Eukaryota; Opisthokonta; Metazoa; Eumetazoa; Bilateria; Deuterostomia; Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini; Hominoidea; Hominidae; Homininae; Homo

Attributes

cell line	GM23421
sex	Female
cell type	B-Lymphocyte
race	Caucasian
age	34 YR
Gene	LMNA
affected_by	LMNA
Mutation	ARG249GLN
collection	NIGMS Human Genetic Cell Repository

Tags: Lamin a/c
Emery-dreifuss muscular dystrophy autosomal dominant
EDMD2
LMNA

Description: Clinically affected;no family history;lower extremity weakness;walks with no assistance;falls when tired;paroxysmal atrial fibrillation;nonsustained ventricular tachycardia;first degree AV block;Bell's palsy;moderate lumbar lordosis;some difficulty with tandem gait;donor subject has a G>A transition at nucleotide 746 in exon 4 of the LMNA gene (746G>A) resulting in the substitution of glutamine for arginine at codon 249 Arg249Gln (R249Q)